TY - JOUR
T1 - Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening
T2 - Essential Steps
AU - Baker, Mei
AU - Griggs, Robert
AU - Byrne, Barry
AU - Connolly, Anne M.
AU - Finkel, Richard
AU - Grajkowska, Lucja
AU - Haidet-Phillips, Amanda
AU - Hagerty, Laura
AU - Ostrander, Robert
AU - Orlando, Lianna
AU - Swoboda, Kathryn
AU - Watson, Michael
AU - Howell, R. Rodney
N1 - Publisher Copyright:
© 2019 American Medical Association. All rights reserved.
PY - 2019/8
Y1 - 2019/8
N2 - Importance: Newborn screening (NBS) identifies infants with specific congenital disorders for which earlier intervention cannot only prevent a lifetime of chronic disability but also, most importantly, save lives. In this article, we discuss complexities associated with NBS processes in the United States, with a focus on challenges in neuromuscular disorders. Observations: As new interventions for neuromuscular disorders become available, the clinical community must prepare to overcome the challenges of adding new diseases to screening panels and understand the rigorous evidence review at the federal level and the complex process of state-level implementation. In this regard, NBS programs for Pompe disease and spinal muscular atrophy can guide the path of Duchenne muscular dystrophy and other neuromuscular disorders as future candidates for NBS. Conclusions and Relevance: The availability of advanced screening methods, the emergence of effective treatment, and the support of professional organizations may facilitate the expansion of NBS, such that an increasing number of infants can be identified in the newborn period who will benefit from life-saving interventions.
AB - Importance: Newborn screening (NBS) identifies infants with specific congenital disorders for which earlier intervention cannot only prevent a lifetime of chronic disability but also, most importantly, save lives. In this article, we discuss complexities associated with NBS processes in the United States, with a focus on challenges in neuromuscular disorders. Observations: As new interventions for neuromuscular disorders become available, the clinical community must prepare to overcome the challenges of adding new diseases to screening panels and understand the rigorous evidence review at the federal level and the complex process of state-level implementation. In this regard, NBS programs for Pompe disease and spinal muscular atrophy can guide the path of Duchenne muscular dystrophy and other neuromuscular disorders as future candidates for NBS. Conclusions and Relevance: The availability of advanced screening methods, the emergence of effective treatment, and the support of professional organizations may facilitate the expansion of NBS, such that an increasing number of infants can be identified in the newborn period who will benefit from life-saving interventions.
UR - http://www.scopus.com/inward/record.url?scp=85065863526&partnerID=8YFLogxK
U2 - 10.1001/jamaneurol.2019.1206
DO - 10.1001/jamaneurol.2019.1206
M3 - Review article
C2 - 31107518
AN - SCOPUS:85065863526
SN - 2168-6149
VL - 76
SP - 978
EP - 983
JO - JAMA Neurology
JF - JAMA Neurology
IS - 8
ER -